Department of Oral Surgery, Medical University of Gdańsk, 7 Dębinki Street, 80-211 Gdańsk, Poland.
Department of Oral Surgery, Medical University of Warsaw, 6 St. Binieckiego Street, 02-097 Warsaw, Poland.
Int J Environ Res Public Health. 2021 Aug 28;18(17):9099. doi: 10.3390/ijerph18179099.
Hajdu-Cheney syndrome (HCS) is a very rare autosomal-dominant congenital disease associated with mutations in the gene. This disorder affects the connective tissue and is characterized by severe bone resorption. Hajdu-Cheney syndrome most frequently affects the head and feet bones (acroosteolysis).
We present an extremely rare case of a 34-year-old male with Hajdu-Cheney syndrome. The patient was admitted to the Department of Oral Surgery, Medical University of Gdańsk, in order to perform the extraction of three teeth. These teeth were not eligible for conservative treatment and prosthetic reconstruction. The patient was treated with denosumab (angiogenesis and receptor activator of nuclear factor-κB RANK ligand inhibitor, RANKL).
Denosumab is a monoclonal antibody against RANKL. This drug works through a suppression of osteoclast activity. In cases of patients in which the pathway of the RANK/RANKL/osteoprotegerin is dysregulated, denosumab has been approved for the treatment off-label. In patients receiving denosumab, a delayed wound healing in the oral cavity and osteonecrosis may occur. Dental procedures involving the alveolar bone process (tooth extractions and bone alveoloplasty) may be a risk factor for medication-related osteonecrosis of the jaw (MRONJ). Spontaneous osteonecrosis is rarely observed. MRONJ consists of the destruction of exposed bone, with the exposure persisting for a minimum of 6-8 weeks. This is the first article about an HCS patient treated with denosumab who underwent invasive oral surgery procedures. This case report highlights the difficulties for professionals occurring during the oral surgery procedures in such patients.
Hajdu-Cheney 综合征（HCS）是一种非常罕见的常染色体显性遗传先天性疾病，与 基因的突变有关。这种疾病影响结缔组织，其特征是严重的骨质吸收。Hajdu-Cheney 综合征最常影响头部和脚部骨骼（骨端溶解）。
我们报告了一例极为罕见的 34 岁男性 Hajdu-Cheney 综合征患者。该患者因需要拔除三颗牙齿而入住格但斯克医科大学口腔外科。这些牙齿不适合保守治疗和修复。该患者接受了地舒单抗（血管生成和核因子-κB 受体激活剂配体抑制剂，RANKL）治疗。
地舒单抗是一种针对 RANKL 的单克隆抗体。该药通过抑制破骨细胞活性起作用。在 RANK/RANKL/骨保护素途径失调的患者中，地舒单抗已被批准用于超适应证治疗。接受地舒单抗治疗的患者可能会出现口腔延迟愈合和骨坏死。涉及牙槽骨过程的牙科手术（拔牙和牙槽骨整形术）可能是药物相关颌骨坏死（MRONJ）的危险因素。自发性骨坏死很少见。MRONJ 由暴露骨的破坏组成，暴露持续至少 6-8 周。这是第一篇关于接受地舒单抗治疗的 HCS 患者接受侵袭性口腔手术的文章。本病例报告强调了此类患者口腔手术过程中专业人员所面临的困难。
